HsaEX0027712 @ hg38
Exon Skipping
Gene
ENSG00000198756 | COLGALT2
Description
collagen beta(1-O)galactosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:16790]
Coordinates
chr1:183951007-183964020:-
Coord C1 exon
chr1:183963901-183964020
Coord A exon
chr1:183954762-183954838
Coord C2 exon
chr1:183951007-183951113
Length
77 bp
Sequences
Splice sites
3' ss Seq
ATGTTTCTTGTGTCTTCCAGTTG
3' ss Score
10.53
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
Exon sequences
Seq C1 exon
GCATCCAGATGTACCTCTGCAACAGAGAGCACTATGGCTACCTGCCCATCCCCCTGAAGCCCCATCAGACACTGCAGGAAGACATCGAGAACCTCATCCATGTGCAGATTGAAGCAATGA
Seq A exon
TTGACCGTCCTCCAATGGAACCCTCCCAGTATGTCTCAGTTGTCCCTAAATATCCAGACAAGATGGGATTTGATGAG
Seq C2 exon
ATTTTCATGATAAACCTCAAACGCAGAAAGGACAGGCGGGACCGGATGCTGCGCACACTGTATGAACAGGAGATTGAGGTCAAGATTGTCGAGGCTGTGGATGGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198756_MULTIEX1-4/4=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0175512=Glyco_transf_25=PU(1.1=7.7)
C2:
PF0175512=Glyco_transf_25=FE(18.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGAAGCCCCATCAGACACTG
R:
CCATCCACAGCCTCGACAATC
Band lengths:
171-248
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development